I47T (p.Ile47Thr) variant of MYO15A (Unconventional myosin-XV)
I47T (p.Ile47Thr) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I47T (p.Ile47Thr) variant details
- p.Ile47Thr
- gnomAD rs1386840850
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.92
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.93
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available